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Earlier this week Hillary, Mel, and Esmé traveled to Washington DC for an SCN8A conference organized by our partners Wishes for Elliott to learn more about SCN8A research. At the conference we were able to speak with a number of researchers who were new to us as well as some, like Dr. Jack Parent of the University of Michigan and Prof. Ingrid Scheffer of University of Melbourne & Florey Institute, who are active in the PCDH19 Epilepsy community. And we were also able to meet Dr. Michael Hammer, the geneticist who discovered the SCN8A mutation in is daughter Shay, and other families with children who have SCN8A mutations as well as with other families who have children with SCN8A mutations
We are thrilled to learn that Dr. Ann Poduri, who is an awardee of two research grants from The Cute Syndrome Foundation for her PCDH19 Epilepsy research at Boston Children's Hospital, is being honored by the American Academy of Neurology with the Dreifuss-Penry Epilepsy Award. Congratulations Dr. Poduri! Read more about Dr. Poduri's PCDH19 research here...
Marinus Pharmaceuticals has initiated a Phase 2 clinical study of ganaxolone as an adjunctive therapy for uncontrolled seizures in PCDH19 female pediatric epilepsy. Ganaxolone has been previously evaluated in multiple pediatric seizure disorders in children age 4 months through 15 years – with positive results on improving seizure frequencies. The most common adverse events across clinical trials are dizziness, fatigue and somnolence.
Learn more about the Phase 2 study and ganaxolone here. November is Epilepsy Awareness Month and November 9th is PCDH19 Awareness Day. You can show your support by taking a photo of yourself with a purple balloon (or wearing purple, if you prefer) and sharing it on our Facebook page: www.facebook.com/thecutesyndrome
In honor of PCDH19 Epilepsy Awareness Day on November 9th and Epilepsy Awareness Month, The Cute Syndrome has released a new PCDH19 Epilepsy Awareness Video. This video was made possible thanks to the families of the girls included in the video, Rick Guidotti of Positive Exposure who photographed the girls, and singer/songwriter Bob Warren who permitted us to use his beautiful song, Today. Please help us spread the word about PCDH19 Epilepsy and the work we are doing at TCS by sharing this video with your friends and family! This September we held our second annual Cute Syndrome Catch the Cute Cocktail Party Fundraiser. The event took place on a beautiful Sunday afternoon, with delicious farm fresh and local food prepared by Spoonful Catering and The Meat Market. Our auction items were donated by a number of artisans, artists, and local businesses. We are thankful to all of our auction item donors: Brent Stirton, Eden Compton, Obsessivision, Phoebe Made, Wedding Hill Farm, Other Half Brewing Company, André Savoie Knives, Complexions Spa, YTK Photography, Diane Simpson, Lacey Lautenschlager from Arbonne, Drue Sanders Jewelry, Mieke Makes, Truly Rhe, Pennywise Shoppe, Lake George Holiday Inn, Saratoga Hampton Inn, Panera, Elisabeth Russell, and Dr. and Mrs. Merecki. The party raised almost $20,000 to support PCDH19 Epilepsy research! Thank you to everyone who helped make this special day happen--our guests, donors, and volunteers! Esmé was not feeling particularly well that day, so she did not get to stay at the party for long, but she is so thankful for everyone's hard work--especially all the work her grandparents do to get their home ready for this event.
Esmé was able to visit some of the members of the Super Cute Troop in mid-August. Super Eric and Super Chloe are a brother and sister team in Canada who have celebrated their last three birthdays by asking for donations to The Cute Syndrome in place of gifts!
Super Esmé was so very excited to finally get to meet them and thank them for helping us, as Eric says, "get good medication for Esmé!" Read more about Super Eric, Super Chloe, and their parents here. Esmé spent several days recently with world-renowned photographer Brent Stirton, who was documenting her daily life--from therapies, to doctors visits, to tube-feeding, to playing with her grandparents--for the Novartis annual report. Not only did she have a fantastic time having her photo taken, but she's very happy to be able to help raise awareness for PCDH19 Epilepsy!
Check out our gallery of photos up at the Positive Exposure website! These are from our photo shoot last fall. http://positiveexposure.org/gallery/#ad-image-1
We are thrilled with our partnership with Positive Exposure, a not-for-profit dedicated to redefining beauty (www.postiveexposure.org). Rich Guidotti is a former high fashion photographer who founded Positive Exposure, an organization dedicated to taking photos of people with genetic differences. For more about what Positive Exposure and Rick do, check out this coverage on UpWorthy. |
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